Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment

DNA methyltransferase type 1 (DNMT1) is a major enzyme involved in maintaining the methylation pattern after DNA replication. Mutations in DNMT1 have been associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). We used fibroblasts, induced pluripotent stem cells (iPS...

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Vydané v:	Human molecular genetics Ročník 32; číslo 21; s. 3105
Hlavní autori:	Davis, Kasey N, Qu, Ping-Ping, Ma, Shining, Lin, Ling, Plastini, Melanie, Dahl, Niklas, Plazzi, Giuseppe, Pizza, Fabio, O'Hara, Ruth, Wong, Wing Hung, Hallmayer, Joachim, Mignot, Emmanuel, Zhang, Xianglong, Urban, Alexander E
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England 17.10.2023
Predmet:	Cerebellar Ataxia - genetics Deafness - genetics DNA DNA (Cytosine-5-)-Methyltransferase 1 - genetics DNA (Cytosine-5-)-Methyltransferases - genetics DNA Methylation - genetics Epigenomics Humans Mutation Transcriptome - genetics
ISSN:	1460-2083, 1460-2083
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